Variant report

Variant	rs17117221
Chromosome Location	chr14:73012484-73012485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72980402..72983329-chr14:73011655..73014017,2	K562	blood:
2	chr14:73004202..73006328-chr14:73010940..73013710,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10151504	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17117195	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17117326	0.92[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs17117590	1.00[CEU][hapmap]
rs56771173	1.00[EUR][1000 genomes]
rs57401932	1.00[EUR][1000 genomes]
rs58361653	1.00[EUR][1000 genomes]
rs60642139	1.00[EUR][1000 genomes]
rs61175412	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61299139	0.81[AFR][1000 genomes]
rs61696507	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146557	1.00[ASW][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73009000-73016400	Enhancers	HSMMtube	muscle
2	chr14:73009400-73015600	Enhancers	HSMM	muscle
3	chr14:73009600-73016800	Enhancers	Fetal Muscle Leg	muscle
4	chr14:73009800-73013800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:73009800-73014800	Enhancers	Fetal Muscle Trunk	muscle
6	chr14:73009800-73015000	Enhancers	Primary B cells from peripheral blood	blood
7	chr14:73010000-73012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:73010000-73012800	Enhancers	Fetal Lung	lung
9	chr14:73010000-73013600	Enhancers	Liver	Liver
10	chr14:73010000-73015400	Enhancers	Fetal Brain Male	brain
11	chr14:73010200-73014400	Enhancers	Primary B cells from cord blood	blood
12	chr14:73010600-73012600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:73010600-73014800	Enhancers	Right Ventricle	heart
14	chr14:73010800-73012800	Enhancers	Esophagus	oesophagus
15	chr14:73010800-73012800	Enhancers	Ovary	ovary
16	chr14:73010800-73013000	Enhancers	NHEK	skin
17	chr14:73010800-73013200	Enhancers	HMEC	breast
18	chr14:73010800-73013600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:73010800-73013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:73010800-73013800	Enhancers	Fetal Brain Female	brain
21	chr14:73011000-73012600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:73011000-73012800	Enhancers	Spleen	Spleen
23	chr14:73011000-73013000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:73011000-73013000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:73011000-73013800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:73011200-73012600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:73011200-73012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:73011200-73012800	Enhancers	Psoas Muscle	Psoas
29	chr14:73011200-73014000	Enhancers	Left Ventricle	heart
30	chr14:73011400-73012800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:73011400-73012800	Enhancers	NH-A	brain
32	chr14:73011400-73013600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:73011800-73012800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:73011800-73013200	Weak transcription	Fetal Heart	heart
35	chr14:73011800-73016000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:73011800-73016400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:73012000-73013400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:73012000-73014000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:73012000-73025200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:73012200-73013600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:73012200-73013800	Weak transcription	Brain Angular Gyrus	brain
42	chr14:73012200-73019000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:73012200-73019000	Weak transcription	Right Atrium	heart
44	chr14:73012200-73019600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:73012200-73019800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:73012200-73025600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:73012400-73012600	Bivalent Enhancer	Dnd41	blood
48	chr14:73012400-73013000	Enhancers	Fetal Kidney	kidney
49	chr14:73012400-73013200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr14:73012400-73013200	Enhancers	GM12878-XiMat	blood

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